A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619664



Internal ID15818245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104417408..104491416hg38UCSC Ensembl
Outerchr14:104883745..104957753hg19UCSC Ensembl
Outerchr14:103954790..104028798hg18UCSC Ensembl
Outerchr14:103954790..104028798hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg384035
hg194035
hg184035
hg174035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509555
Supporting Variants
SamplesNA10860
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619664
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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